{"id":"https://openalex.org/W2062317709","doi":"https://doi.org/10.1111/j.1365-2141.1986.tb07578.x","title":"Expression of two G\u20106\u2010PD genes in an XX phenotypic male","display_name":"Expression of two G\u20106\u2010PD genes in an XX phenotypic male","publication_year":1986,"publication_date":"1986-09-01","ids":{"openalex":"https://openalex.org/W2062317709","doi":"https://doi.org/10.1111/j.1365-2141.1986.tb07578.x","mag":"2062317709","pmid":"https://pubmed.ncbi.nlm.nih.gov/3756097"},"language":"en","primary_location":{"id":"doi:10.1111/j.1365-2141.1986.tb07578.x","doi":"https://doi.org/10.1111/j.1365-2141.1986.tb07578.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1365-2141.1986.tb07578.x","pdf_url":null,"source":{"id":"https://openalex.org/S153015021","display_name":"British Journal of Haematology","issn_l":"0007-1048","issn":["0007-1048","1365-2141"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"British Journal of Haematology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5065128454","display_name":"Martin H. Steinberg","orcid":"https://orcid.org/0000-0001-8800-8020","observed_orcids":["https://orcid.org/0000-0001-8800-8020"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I368840534","display_name":"University of Mississippi","ror":"https://ror.org/02teq1165","country_code":"US","type":"education","lineage":["https://openalex.org/I368840534","https://openalex.org/I4210141039"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Martin H. Steinberg","raw_affiliation_strings":["Hematology-Oncology Section and Department of Medicine, University of Mississippi School of Medicine and Jackson VA Medical Center, Jackson, Mississippi, the Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania","University of Pennsylvania, Philadelphia, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hematology-Oncology Section and Department of Medicine, University of Mississippi School of Medicine and Jackson VA Medical Center, Jackson, Mississippi, the Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I368840534","https://openalex.org/I79576946"]},{"raw_affiliation_string":"University of Pennsylvania, Philadelphia, United States","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111699111","display_name":"Frances M. Gill","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I368840534","display_name":"University of Mississippi","ror":"https://ror.org/02teq1165","country_code":"US","type":"education","lineage":["https://openalex.org/I368840534","https://openalex.org/I4210141039"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Frances Gill","raw_affiliation_strings":["Hematology-Oncology Section and Department of Medicine, University of Mississippi School of Medicine and Jackson VA Medical Center, Jackson, Mississippi, the Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania","University of Pennsylvania, Philadelphia, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hematology-Oncology Section and Department of Medicine, University of Mississippi School of Medicine and Jackson VA Medical Center, Jackson, Mississippi, the Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I368840534","https://openalex.org/I79576946"]},{"raw_affiliation_string":"University of Pennsylvania, Philadelphia, United States","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5023255205","display_name":"Beverly S. Emanuel","orcid":"https://orcid.org/0000-0002-9207-6955","observed_orcids":["https://orcid.org/0000-0002-9207-6955"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I368840534","display_name":"University of Mississippi","ror":"https://ror.org/02teq1165","country_code":"US","type":"education","lineage":["https://openalex.org/I368840534","https://openalex.org/I4210141039"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Beverly S. Emanuel","raw_affiliation_strings":["Hematology-Oncology Section and Department of Medicine, University of Mississippi School of Medicine and Jackson VA Medical Center, Jackson, Mississippi, the Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania","University of Pennsylvania, Philadelphia, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hematology-Oncology Section and Department of Medicine, University of Mississippi School of Medicine and Jackson VA Medical Center, Jackson, Mississippi, the Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I368840534","https://openalex.org/I79576946"]},{"raw_affiliation_string":"University of Pennsylvania, Philadelphia, United States","institution_ids":["https://openalex.org/I79576946"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5065128454"],"corresponding_institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I368840534","https://openalex.org/I79576946"],"apc_list":{"value":5190,"currency":"USD","value_usd":5190},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.15841584,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"64","issue":"1","first_page":"107","last_page":"110"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12068","display_name":"Neonatal Health and Biochemistry","score":0.6664999723434448,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12068","display_name":"Neonatal Health and Biochemistry","score":0.6664999723434448,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.2639000117778778,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.03629999980330467,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/glucose-6-phosphate-dehydrogenase","display_name":"glucose-6-phosphate dehydrogenase","score":0.9940000176429749},{"id":"https://openalex.org/keywords/x-linked-inheritance","display_name":"X-linked inheritance","score":0.4950000047683716},{"id":"https://openalex.org/keywords/46-xx-male","display_name":"46,XX male","score":0.8159999847412109},{"id":"https://openalex.org/keywords/phenotypic-male","display_name":"phenotypic male","score":0.734000027179718},{"id":"https://openalex.org/keywords/x-chromosome","display_name":"X chromosome","score":0.4059999883174896},{"id":"https://openalex.org/keywords/heterozygosity","display_name":"heterozygosity","score":0.7099999785423279},{"id":"https://openalex.org/keywords/enzyme-polymorphism","display_name":"enzyme polymorphism","score":0.5720000267028809},{"id":"https://openalex.org/keywords/sex-reversal","display_name":"sex reversal","score":0.3540000021457672}],"concepts":[{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.803723931312561},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.749407947063446},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.7025575637817383},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6436401605606079},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6262955665588379},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.45151782035827637},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4493907690048218},{"id":"https://openalex.org/C35158069","wikidata":"https://www.wikidata.org/wiki/Q61333","display_name":"X chromosome","level":3,"score":0.42371299862861633},{"id":"https://openalex.org/C2776317432","wikidata":"https://www.wikidata.org/wiki/Q412547","display_name":"Dehydrogenase","level":3,"score":0.4104146957397461},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.4001622796058655},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.2182605266571045},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0764533281326294}],"mesh":[{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005954","descriptor_name":"Glucosephosphate Dehydrogenase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006450","descriptor_name":"Hemoglobin SC Disease","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D006450","descriptor_name":"Hemoglobin SC Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007621","descriptor_name":"Karyotyping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012729","descriptor_name":"Sex Chromosome Aberrations","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D012729","descriptor_name":"Sex Chromosome Aberrations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014960","descriptor_name":"X Chromosome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1111/j.1365-2141.1986.tb07578.x","doi":"https://doi.org/10.1111/j.1365-2141.1986.tb07578.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1365-2141.1986.tb07578.x","pdf_url":null,"source":{"id":"https://openalex.org/S153015021","display_name":"British Journal of Haematology","issn_l":"0007-1048","issn":["0007-1048","1365-2141"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"British Journal of Haematology","raw_type":"journal-article"},{"id":"pmid:3756097","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3756097","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"British journal of haematology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.766700029373169,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320335357","display_name":"Guangdong Academy of Sciences","ror":"https://ror.org/01g9hkj35"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":13,"referenced_works":["https://openalex.org/W1507958108","https://openalex.org/W1964481365","https://openalex.org/W1980135271","https://openalex.org/W1984926771","https://openalex.org/W1991236145","https://openalex.org/W2009479136","https://openalex.org/W2012046043","https://openalex.org/W2029146706","https://openalex.org/W2061732632","https://openalex.org/W2062396202","https://openalex.org/W2073307065","https://openalex.org/W2086328322","https://openalex.org/W2336555111"],"related_works":["https://openalex.org/W1978165284","https://openalex.org/W2135106121","https://openalex.org/W1964168630","https://openalex.org/W2052416028","https://openalex.org/W2411017547","https://openalex.org/W4399646837","https://openalex.org/W2981476903","https://openalex.org/W2327605815","https://openalex.org/W2534068746","https://openalex.org/W2092412244"],"abstract_inverted_index":{"The":[0],"glucose-6-phosphate":[1],"dehydrogenase":[2],"(G-6-PD)":[3],"gene":[4,15],"is":[5],"located":[6],"on":[7],"the":[8,36],"X-chromosome.":[9],"Normal":[10],"males":[11],"have":[12],"a":[13,18,39,58],"single":[14,19],"and":[16],"produce":[17],"G-6-PD":[20,32,50],"type,":[21],"while":[22],"normal":[23],"XX":[24],"females":[25],"may":[26],"be":[27,46],"heterozygotes":[28],"for":[29,48],"two":[30,49],"different":[31],"genes.":[33],"We":[34],"report":[35],"case":[37],"of":[38],"phenotypic":[40],"male":[41],"who":[42],"was":[43,57],"found":[44],"to":[45],"heterozygous":[47],"enzymes.":[51],"Cytogenetic":[52],"analysis":[53],"showed":[54],"that":[55],"he":[56],"46,XX":[59],"male.":[60]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
